Hb Cagliari | beta60(E4)Val->Glu |
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CONTACT | Internal | ||
HEMATOLOGY | Hemolytic anemia; microcytosis; hypochromia; thalassemia intermedia | ||
ELECTROPHORESIS | No abnormal Hb was detected | ||
CHROMATOGRAPHY | No abnormal Hb was detected | ||
STRUCTURE STUDIES | Not possible; identification was by DNA analysis | ||
DNA ANALYSES | A GTG->GAG mutation at codon 60 | ||
FUNCTION STUDIES | Not possible | ||
STABILITY | Highly unstable | ||
OCCURRENCE | Found in an Italian child; no abnormalities in the parents | ||
OTHER INFORMATION | The variant is highly unstable and is rapidly broken down resulting in a high Hb F level and reduced beta/alpha in vitro chain synthesis ratio; splenectomy improved the condition considerably |
REFERENCES | |||
1. | Podda, A., Galanello, R., Maccioni, L., Melis, M.A., Rosatelli, C., Perseu, L., and Cao, A.: Blood, 77:371, 1991. |